ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)

gnomAD frequency: 0.00888  dbSNP: rs74120667
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038695 SCV000062373 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val686Ala in Exon 21 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 3.2% (119/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs74120667).
Invitae RCV000230672 SCV000289522 benign Primary dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711151 SCV001940687 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038695 SCV004038150 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914951 SCV004741587 benign NEBL-related disorder 2019-05-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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